Incidental Mutation 'R2511:Irf1'
ID 252990
Institutional Source Beutler Lab
Gene Symbol Irf1
Ensembl Gene ENSMUSG00000018899
Gene Name interferon regulatory factor 1
Synonyms Irf-1
MMRRC Submission 040417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2511 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53660841-53669200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53664617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000116656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019043] [ENSMUST00000108920] [ENSMUST00000108922] [ENSMUST00000123376] [ENSMUST00000133291] [ENSMUST00000138913] [ENSMUST00000140866] [ENSMUST00000142221] [ENSMUST00000170390]
AlphaFold P15314
Predicted Effect probably damaging
Transcript: ENSMUST00000019043
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019043
Gene: ENSMUSG00000018899
AA Change: V108A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108920
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104548
Gene: ENSMUSG00000018899
AA Change: V108A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108922
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104550
Gene: ENSMUSG00000018899
AA Change: V108A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123376
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122101
Gene: ENSMUSG00000018899
AA Change: V108A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128336
Predicted Effect probably damaging
Transcript: ENSMUST00000133291
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116656
Gene: ENSMUSG00000018899
AA Change: V108A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138913
SMART Domains Protein: ENSMUSP00000118314
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
IRF 1 62 2.41e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000140866
AA Change: V108A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114315
Gene: ENSMUSG00000018899
AA Change: V108A

DomainStartEndE-ValueType
IRF 1 114 6.75e-62 SMART
low complexity region 120 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153054
Predicted Effect probably benign
Transcript: ENSMUST00000142221
SMART Domains Protein: ENSMUSP00000118795
Gene: ENSMUSG00000018899

DomainStartEndE-ValueType
Pfam:IRF 5 48 4.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170390
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to reduced CD8+ T cell number and altered response to viral infection and may cause alterations in cytokine levels, CD4+ cell subset homeostasis, blood vessel healing, DNA repair, and susceptibility to induced lymphomas, arthritis and autoimmune encephalitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,097,902 (GRCm39) C100S probably damaging Het
Abcc8 C T 7: 45,800,204 (GRCm39) R526H probably damaging Het
Acad10 G A 5: 121,769,630 (GRCm39) P609S probably benign Het
Acod1 A T 14: 103,288,775 (GRCm39) D95V probably damaging Het
Acsm5 A T 7: 119,129,677 (GRCm39) I130F possibly damaging Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ankar A T 1: 72,697,853 (GRCm39) I791K probably damaging Het
Ano10 A G 9: 122,088,011 (GRCm39) V364A probably damaging Het
Arhgap9 T C 10: 127,164,854 (GRCm39) probably null Het
Arsi G A 18: 61,049,666 (GRCm39) C183Y probably damaging Het
Ascl2 T G 7: 142,521,953 (GRCm39) E97A probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bms1 C T 6: 118,368,114 (GRCm39) probably null Het
Bysl T A 17: 47,915,260 (GRCm39) T163S probably benign Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cc2d2a A T 5: 43,892,737 (GRCm39) Q1433L probably damaging Het
Cchcr1 T C 17: 35,841,410 (GRCm39) S809P probably benign Het
Ccz1 G T 5: 143,949,815 (GRCm39) T70K probably damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cep164 A T 9: 45,686,547 (GRCm39) L729Q probably damaging Het
Clcn6 A G 4: 148,101,951 (GRCm39) probably null Het
Clcn7 T A 17: 25,374,420 (GRCm39) V507E probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Ctso A C 3: 81,840,041 (GRCm39) T24P probably damaging Het
Dis3l2 A T 1: 86,917,980 (GRCm39) N543I probably benign Het
Dnah12 A T 14: 26,491,907 (GRCm39) Y1114F possibly damaging Het
Emx1 A G 6: 85,181,033 (GRCm39) D250G probably benign Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Fam149b A C 14: 20,428,524 (GRCm39) N341T probably damaging Het
Fsip2 A G 2: 82,782,001 (GRCm39) K62R probably damaging Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
Gbp3 A G 3: 142,276,343 (GRCm39) R480G probably benign Het
Get3 A G 8: 85,746,395 (GRCm39) V151A possibly damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm9930 T C 10: 9,410,446 (GRCm39) noncoding transcript Het
Gstt4 C T 10: 75,650,959 (GRCm39) C221Y probably benign Het
Gzmg A T 14: 56,395,832 (GRCm39) D42E probably benign Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Hs2st1 G A 3: 144,275,691 (GRCm39) probably benign Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Jsrp1 C G 10: 80,648,140 (GRCm39) S36T probably benign Het
Kcnq5 T A 1: 21,576,006 (GRCm39) R233* probably null Het
Kif7 T C 7: 79,352,012 (GRCm39) K917E probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Lifr A G 15: 7,196,397 (GRCm39) T194A probably benign Het
Ltbp2 T C 12: 84,851,183 (GRCm39) probably null Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Man2c1 A G 9: 57,048,672 (GRCm39) probably null Het
Met T C 6: 17,491,966 (GRCm39) S243P probably damaging Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mre11a A C 9: 14,707,065 (GRCm39) probably null Het
Mroh9 A G 1: 162,866,514 (GRCm39) S710P probably benign Het
Mvk C A 5: 114,588,459 (GRCm39) Y116* probably null Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncf1 T C 5: 134,254,552 (GRCm39) D184G probably damaging Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or2ag18 G T 7: 106,405,168 (GRCm39) P167H probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4k51 T A 2: 111,584,661 (GRCm39) N22K probably benign Het
Or52b1 A T 7: 104,978,817 (GRCm39) I194N probably damaging Het
Or5b24 T A 19: 12,912,537 (GRCm39) M145K possibly damaging Het
Or5w14 T C 2: 87,541,392 (GRCm39) N286S probably damaging Het
Pcdh1 G A 18: 38,332,532 (GRCm39) T296M possibly damaging Het
Pcdh15 A G 10: 74,481,828 (GRCm39) D391G possibly damaging Het
Pcdha7 C A 18: 37,107,786 (GRCm39) D270E probably damaging Het
Pgam1 C A 19: 41,904,315 (GRCm39) S137R probably damaging Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plce1 T G 19: 38,748,498 (GRCm39) I1729S probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkce T A 17: 86,932,754 (GRCm39) I578N probably damaging Het
Prss58 A C 6: 40,874,734 (GRCm39) S36A probably damaging Het
Ptprm T C 17: 67,000,773 (GRCm39) H1128R probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rubcn T C 16: 32,667,624 (GRCm39) N179S probably damaging Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Sh3bp5 G A 14: 31,133,586 (GRCm39) T82M probably damaging Het
Shank2 A G 7: 143,965,314 (GRCm39) Y974C probably damaging Het
Slc9c1 T C 16: 45,365,099 (GRCm39) I144T possibly damaging Het
Slf2 T C 19: 44,930,045 (GRCm39) I374T possibly damaging Het
Snx13 A G 12: 35,188,080 (GRCm39) D786G probably benign Het
Spcs3 A G 8: 54,976,389 (GRCm39) V151A possibly damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stac3 T C 10: 127,339,787 (GRCm39) probably null Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgm5 T C 2: 120,907,429 (GRCm39) E98G possibly damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmem94 G A 11: 115,682,787 (GRCm39) R608H probably damaging Het
Tnrc6a G A 7: 122,770,315 (GRCm39) V702I probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ugt1a2 A G 1: 88,128,846 (GRCm39) Y163C probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn2r50 T A 7: 9,781,640 (GRCm39) E368D possibly damaging Het
Vmn2r59 T C 7: 41,693,190 (GRCm39) N470S probably damaging Het
Vps45 T C 3: 95,948,757 (GRCm39) T333A probably benign Het
Zbtb44 T A 9: 30,965,539 (GRCm39) D316E probably damaging Het
Zdhhc1 C T 8: 106,210,190 (GRCm39) V76M probably benign Het
Zfp235 T C 7: 23,841,549 (GRCm39) F656S probably damaging Het
Other mutations in Irf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Irf1 APN 11 53,665,187 (GRCm39) missense probably benign
IGL01743:Irf1 APN 11 53,665,277 (GRCm39) missense probably benign 0.39
endeka UTSW 11 53,663,717 (GRCm39) missense probably damaging 1.00
Endeka2 UTSW 11 53,662,148 (GRCm39) missense probably damaging 1.00
Longs_peak UTSW 11 53,666,762 (GRCm39) missense probably benign 0.27
R0981:Irf1 UTSW 11 53,664,548 (GRCm39) makesense probably null
R1861:Irf1 UTSW 11 53,665,183 (GRCm39) missense possibly damaging 0.65
R5828:Irf1 UTSW 11 53,666,762 (GRCm39) missense probably benign 0.27
R6514:Irf1 UTSW 11 53,662,148 (GRCm39) missense probably damaging 1.00
R6986:Irf1 UTSW 11 53,664,966 (GRCm39) missense probably damaging 1.00
R7108:Irf1 UTSW 11 53,665,238 (GRCm39) missense probably damaging 1.00
R7696:Irf1 UTSW 11 53,667,162 (GRCm39) missense probably benign 0.07
R9055:Irf1 UTSW 11 53,667,196 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCAACTCTGGGCATGTGAGAAG -3'
(R):5'- TCTTAGTGTCTCGGCTGGAC -3'

Sequencing Primer
(F):5'- AGGGCCCGTTGACAGTTG -3'
(R):5'- TCTCGGCTGGACTTGGAC -3'
Posted On 2014-12-04